CAVIN1, caveolae associated protein 1, 284119

N. diseases: 151; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750069
Disease: Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Congenital Generalized, Type 4 		0.830 Biomarker disease BEFREE To the best of our knowledge, we present a novel mutation of PTRF from Saudi Arabia and our findings broaden the mutation spectrum of PTRF in the familial CGL4 phenotype. 25721873 2015
CUI: C2750069
Disease: Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Congenital Generalized, Type 4 		0.830 Biomarker disease MGD Deletion of cavin genes reveals tissue-specific mechanisms for morphogenesis of endothelial caveolae. 23652019 2013
CUI: C2750069
Disease: Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Congenital Generalized, Type 4 		0.830 CausalMutation disease CLINVAR Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. 20300641 2010
CUI: C2750069
Disease: Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Congenital Generalized, Type 4 		0.830 GeneticVariation disease BEFREE We report novel PTRF mutations and detailed phenotypes of two male and three female patients with CGL4 belonging to two pedigrees of Mexican origin (CGL7100 and CGL178) and one pedigree of Turkish origin (CGL180). 20684003 2010
CUI: C2750069
Disease: Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Congenital Generalized, Type 4 		0.830 GeneticVariation disease BEFREE Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. 20300641 2010
CUI: C2750069
Disease: Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Congenital Generalized, Type 4 		0.830 Biomarker disease GENOMICS_ENGLAND Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. 19726876 2009
CUI: C2750069
Disease: Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Congenital Generalized, Type 4 		0.830 Biomarker disease GENOMICS_ENGLAND Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. 19726876 2009
CUI: C2750069
Disease: Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Congenital Generalized, Type 4 		0.830 Biomarker disease MGD Deletion of Cavin/PTRF causes global loss of caveolae, dyslipidemia, and glucose intolerance. 18840361 2008
CUI: C2750069
Disease: Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Congenital Generalized, Type 4 		0.830 Biomarker disease CTD_human
CUI: C2750069
Disease: Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Congenital Generalized, Type 4 		0.830 Biomarker disease GENOMICS_ENGLAND
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.400 Biomarker disease BEFREE Congenital generalized lipodystrophy, type 4 (CGL4) is a rare autosomal recessive disorder caused by mutations in caveolae-associated protein 1. 30476128 2019
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.400 GermlineCausalMutation disease ORPHANET Bone Density in Patients With Berardinelli-Seip Congenital Lipodystrophy Is Higher in Trabecular Sites and in Type 2 Patients. 27894728 2019
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.400 GeneticVariation disease BEFREE Here we present characteristic skeletal muscle imaging findings in four patients with genetically defined childhood-onset RMD caused by CAV3 mutations and in one patient with congenital generalized lipodystrophy type 4 with muscular dystrophy due to polymerase I and transcript release factor (PTRF) mutations, which may have caused secondary deficiency of caveolin-3. 30174172 2018
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.400 GeneticVariation disease BEFREE Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency. 27144934 2016
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.400 GeneticVariation disease BEFREE Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family. 25721873 2015
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.400 GeneticVariation disease BEFREE The major genetic factors in the generalized forms of the lipodystrophies, particularly Congenital generalized lipodystrophy (CGL)-Berardinelli-Seip syndrome, are the AGPAT2, BSCL2, caveolin 1 (CAV1) and polymerase-I-and-transcriptrelease factor (PTRF) genes. 24152769 2014
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.400 GeneticVariation disease BEFREE Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy. 24024685 2013
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.400 GeneticVariation disease BEFREE A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4. 20638880 2011
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.400 Biomarker disease BEFREE Mutations in AGPAT2, BSCL2, CAV1, and PTRF have been reported in congenital generalized lipodystrophy and in LMNA, PPARG, AKT2, and PLIN1 in FPL. 21865368 2011
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.400 GermlineCausalMutation disease ORPHANET In conclusion, mutations in PTRF result in a novel phenotype that includes generalized lipodystrophy with mild metabolic derangements, myopathy, cardiac arrhythmias, atlantoaxial instability, and pyloric stenosis. 20684003 2010
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.400 GeneticVariation disease BEFREE Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. 20300641 2010
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.400 GeneticVariation disease BEFREE In conclusion, mutations in PTRF result in a novel phenotype that includes generalized lipodystrophy with mild metabolic derangements, myopathy, cardiac arrhythmias, atlantoaxial instability, and pyloric stenosis. 20684003 2010
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.400 GeneticVariation disease BEFREE Here, we identified PTRF mutations in 5 nonconsanguineous patients who presented with both generalized lipodystrophy and muscular dystrophy. 19726876 2009
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.340 GeneticVariation disease BEFREE Interaction of cavin-1/PTRF leucine zipper domain 2 and its congenital generalized lipodystrophy mutant with model membranes. 31706570 2020
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		0.340 GeneticVariation disease BEFREE We identified two new PTRF homozygous mutations (p.Asp59Val or p.Gln157Hisfs*52) in four patients with CGL4 presenting with generalized lipoatrophy and associated metabolic abnormalities. 27144934 2016